ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.242C>T (p.Ala81Val)

gnomAD frequency: 0.00016  dbSNP: rs148140510
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370457 SCV000373486 uncertain significance Congenital Stationary Night Blindness, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034418 SCV001197767 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing

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